| 1. |
- Bokhari, Rida, et al.
(författare)
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Land subsidence analysis using synthetic aperture radar data
- 2023
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Ingår i: Heliyon. - : Elsevier. - 2405-8440. ; 9:3
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Tidskriftsartikel (refereegranskat)abstract
- Land subsidence is considered a threat to developing cities and is triggered by several natural (geological and seismic) and human (mining, groundwater withdrawal, oil and gas extraction, constructions) factors. This research has gathered datasets consisting of 80 Sentinel-1A ascending and descending SLC images from July 2017 to July 2019. This dataset, concerning InSAR and PS-InSAR, is processed with SARPROZ software to determine the land subsidence in Gwadar City, Balochistan, Pakistan. Later, the maps were created with ArcGIS 10.8. Due to InSAR’s limitations in measuring millimeter-scale surface deformation, Multi-Temporal InSAR techniques, like PS-InSAR, are introduced to provide better accuracy, consistency, and fewer errors of deformation analysis. This remote-based SAR technique is helpful in the Gwadar area; for researchers, city mobility is constrained and has become more restricted post-Covid-19. This technique requires multiple images acquired of the same place at different times for estimating surface deformation per year, along with surface uplifting and subsidence. The InSAR results showed maximum deformation in the Koh-i-Mehdi Mountain from 2017 to 2019. The PS-InSAR results showed subsidence up to −92 mm/year in ascending track and −66 mm/year in descending track in the area of Koh-i-Mehdi Mountain, and up to −48 mm/year in ascending track and −32 mm/year in descending track in the area of the deep seaport. From our experimental results, a high subsidence rate has been found in the newly evolving Gwadar City. This city is very beneficial to the country’s economic development because of its deep-sea port, developed by the China-Pakistan Economic Corridor (CPEC). The research is associated with a detailed analysis of Gwadar City, identifying the areas with significant subsidence, and enlisting the possible causes that are needed to be resolved before further developments. Our findings are helpful to urban development and disaster monitoring as the city is being promoted as the next significant deep seaport with the start of CPEC.
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| 2. |
- Liu, DJ, et al.
(författare)
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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
- 2023
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 369-
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Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.
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| 3. |
- Lozano, Rafael, et al.
(författare)
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Measuring progress from 1990 to 2017 and projecting attainment to 2030 of the health-related Sustainable Development Goals for 195 countries and territories: a systematic analysis for the Global Burden of Disease Study 2017
- 2018
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Ingår i: The Lancet. - : Elsevier. - 1474-547X .- 0140-6736. ; 392:10159, s. 2091-2138
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Tidskriftsartikel (refereegranskat)abstract
- Background: Efforts to establish the 2015 baseline and monitor early implementation of the UN Sustainable Development Goals (SDGs) highlight both great potential for and threats to improving health by 2030. To fully deliver on the SDG aim of “leaving no one behind”, it is increasingly important to examine the health-related SDGs beyond national-level estimates. As part of the Global Burden of Diseases, Injuries, and Risk Factors Study 2017 (GBD 2017), we measured progress on 41 of 52 health-related SDG indicators and estimated the health-related SDG index for 195 countries and territories for the period 1990–2017, projected indicators to 2030, and analysed global attainment. Methods: We measured progress on 41 health-related SDG indicators from 1990 to 2017, an increase of four indicators since GBD 2016 (new indicators were health worker density, sexual violence by non-intimate partners, population census status, and prevalence of physical and sexual violence [reported separately]). We also improved the measurement of several previously reported indicators. We constructed national-level estimates and, for a subset of health-related SDGs, examined indicator-level differences by sex and Socio-demographic Index (SDI) quintile. We also did subnational assessments of performance for selected countries. To construct the health-related SDG index, we transformed the value for each indicator on a scale of 0–100, with 0 as the 2·5th percentile and 100 as the 97·5th percentile of 1000 draws calculated from 1990 to 2030, and took the geometric mean of the scaled indicators by target. To generate projections through 2030, we used a forecasting framework that drew estimates from the broader GBD study and used weighted averages of indicator-specific and country-specific annualised rates of change from 1990 to 2017 to inform future estimates. We assessed attainment of indicators with defined targets in two ways: first, using mean values projected for 2030, and then using the probability of attainment in 2030 calculated from 1000 draws. We also did a global attainment analysis of the feasibility of attaining SDG targets on the basis of past trends. Using 2015 global averages of indicators with defined SDG targets, we calculated the global annualised rates of change required from 2015 to 2030 to meet these targets, and then identified in what percentiles the required global annualised rates of change fell in the distribution of country-level rates of change from 1990 to 2015. We took the mean of these global percentile values across indicators and applied the past rate of change at this mean global percentile to all health-related SDG indicators, irrespective of target definition, to estimate the equivalent 2030 global average value and percentage change from 2015 to 2030 for each indicator. Findings: The global median health-related SDG index in 2017 was 59·4 (IQR 35·4–67·3), ranging from a low of 11·6 (95% uncertainty interval 9·6–14·0) to a high of 84·9 (83·1–86·7). SDG index values in countries assessed at the subnational level varied substantially, particularly in China and India, although scores in Japan and the UK were more homogeneous. Indicators also varied by SDI quintile and sex, with males having worse outcomes than females for non-communicable disease (NCD) mortality, alcohol use, and smoking, among others. Most countries were projected to have a higher health-related SDG index in 2030 than in 2017, while country-level probabilities of attainment by 2030 varied widely by indicator. Under-5 mortality, neonatal mortality, maternal mortality ratio, and malaria indicators had the most countries with at least 95% probability of target attainment. Other indicators, including NCD mortality and suicide mortality, had no countries projected to meet corresponding SDG targets on the basis of projected mean values for 2030 but showed some probability of attainment by 2030. For some indicators, including child malnutrition, several infectious diseases, and most violence measures, the annualised rates of change required to meet SDG targets far exceeded the pace of progress achieved by any country in the recent past. We found that applying the mean global annualised rate of change to indicators without defined targets would equate to about 19% and 22% reductions in global smoking and alcohol consumption, respectively; a 47% decline in adolescent birth rates; and a more than 85% increase in health worker density per 1000 population by 2030. Interpretation: The GBD study offers a unique, robust platform for monitoring the health-related SDGs across demographic and geographic dimensions. Our findings underscore the importance of increased collection and analysis of disaggregated data and highlight where more deliberate design or targeting of interventions could accelerate progress in attaining the SDGs. Current projections show that many health-related SDG indicators, NCDs, NCD-related risks, and violence-related indicators will require a concerted shift away from what might have driven past gains—curative interventions in the case of NCDs—towards multisectoral, prevention-oriented policy action and investments to achieve SDG aims. Notably, several targets, if they are to be met by 2030, demand a pace of progress that no country has achieved in the recent past. The future is fundamentally uncertain, and no model can fully predict what breakthroughs or events might alter the course of the SDGs. What is clear is that our actions—or inaction—today will ultimately dictate how close the world, collectively, can get to leaving no one behind by 2030.
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| 4. |
- Naqvi, Salman Raza, et al.
(författare)
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Recent developments on sewage sludge pyrolysis and its kinetics : Resources recovery, thermogravimetric platforms, and innovative prospects
- 2021
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Ingår i: Computers and Chemical Engineering. - : Elsevier. - 0098-1354 .- 1873-4375. ; 150
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Tidskriftsartikel (refereegranskat)abstract
- Sewage sludge is a by-product of the wastewater treatment process, which has the potential to be a source of transport fuels, heat, and power using the pyrolysis process. Considering the prevalence and disposal issues associated with sewage sludge, the objective of this study is to critically review the recent advancements in sewage sludge pyrolysis and its kinetics obtained using the thermogravimetric techniques, and other associated different kinetic models documented in the literature. The study will identify optimum operating conditions and design parameters to obtain high yields. The state-of-the-art perspectives and the challenges associated with full-scale implementation are highlighted for biofuels and resource recovery from the sewage sludge. Furthermore, machine-learning approaches in thermal kinetics of pyrolysis are presented and discussed in terms of their effectiveness in predicting thermal kinetics data. Finally, the challenges for a successful implementation and commercial viability of sewage sludge pyrolysis are discussed.
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| 5. |
- Nawaz, Sadia, et al.
(författare)
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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
- 2009
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 17:12, s. 1600-1605
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Tidskriftsartikel (refereegranskat)abstract
- Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutation in WNT10A was recently identified in odonto-onycho-dermal dysplasia (OODD; MIM 257980), a rare syndrome characterised by severe hypodontia, nail dystrophy, smooth tongue, dry skin, keratoderma and hyperhydrosis of palms and soles. We identified a large consanguineous Pakistani pedigree comprising six individuals affected by a complete OODD syndrome. Autozygosity mapping using SNP array analysis showed that the affected individuals are homozygous for the WNT10A gene region. Subsequent mutation screening showed a homozygous c.392C>T transition in exon 3 of WNT10A, which predicts a p.A131V substitution in a conserved alpha-helix domain. We report here on the first inherited missense mutation in WNT10A with associated ectodermal features.
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| 6. |
- Rasool, Mahmood, et al.
(författare)
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A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia
- 2008
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Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 53:10, s. 894-8
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Tidskriftsartikel (refereegranskat)abstract
- Isolated hypodontia, or congenital absence of one to six permanent teeth (OMIM 300606), is a common condition that affects about 20% of individuals worldwide. We identified two extended Pakistani pedigrees segregating X-linked hypodontia with variable expressivity. Affected males show no other associated anomalies, and obligate carrier females have normal dentition. We analyzed the families with polymorphic markers in the ectodysplasin A (EDA) gene region and obtained significant linkage to the phenotype in each pedigree (Z(max) 3.29 and 2.65, respectively, at theta = 0.00). Sequence analysis of the coding regions of EDA revealed a novel missense mutation c.1091T>C resulting in a methionine to threonine substitution (p.M364T) in the tumor necrosis factor (TNF) homology domain. Met364 is a highly conserved residue located on the outer surface of the EDA protein. From our findings, we suggest that the mutation disturbs but does not destroy the EDA structure, resulting in the partial and unusually mild ED phenotype restricted to hypodontia.
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| 7. |
- Senra, Hugo, et al.
(författare)
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Psychological and Psychosocial Interventions for Depression and Anxiety in Patients with Age-Related Macular Degeneration : A Systematic Review
- 2019
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Ingår i: The American journal of geriatric psychiatry. - : Elsevier. - 1064-7481 .- 1545-7214. ; 27:8, s. 755-773
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Forskningsöversikt (refereegranskat)abstract
- Purpose To review the current literature on psychosocial and psychological interventions to prevent and treat depression and anxiety in patients with age-related macular degeneration (AMD). Methods We conducted a systematic review of literature evaluating psychosocial and psychological interventions for depression and anxiety in AMD patients. Primary searches of PubMed, Cochrane library, EMBASE, Global Health, Web of Science, EBSCO, and Science Direct were conducted to include all papers published until April 21st. 2018. Results Of a total of 398 citations retrieved, we selected 12 eligible studies published between 2002 and 2016. We found 9 randomized controlled trials (RCT), and 3 non-randomised intervention (NRI) studies. RCT studies suggested that interventions using group self-management techniques, and individual behavioural activation plus low vision rehabilitation can be effective to treat and prevent depression in AMD patients, and one study suggested that a stepped-care intervention using cognitive-behavioural techniques can be effective to manage anxiety and depression over time. NRI studies highlighted a positive effect of self-help and emotion-focused interventions to reduce depression. Conclusions Clinical practice with AMD patients can rely on some tailored cognitive-behavioural therapeutic protocols to improve patients’ mental health, but further clinical trials will generate the necessary evidence-based knowledge to improve those therapeutic techniques and offer additional tailored interventions for AMD patients.
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